id string | task_type string | pipeline string | difficulty string | num_hops int64 | question string | context string | reasoning_chain dict | answer string | choices list | modalities list | modality_data list | evidence list | metadata unknown | path_confidence_score float64 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
co_stru_00233 | structural_effect | coding_variant | easy | 1 | NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs) introduces a premature truncation at residue 479 of ASXL1's 1541-residue protein product (AlphaFold model, mean pLDDT 42.21). Approximately how much of the protein is lost downstream of the truncation? | NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs) VARIANT_IN_GENE ASXL1 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_co... | B | [
"A. a substantial portion (25-50%)",
"B. more than half the protein (>50%)",
"C. a small C-terminal portion (<25%)"
] | [
"conservation",
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "evolutionary",
"tag": "conservation",
"anchor_node_id": "NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)",
"source_db": "UCSC_phyloP",
"payload": {
"chrom": "chr20",
"pos": 32433633,
"track": "phyloP100way",
"window": 20,
"scores": [
0.2104329999... | [
{
"source_db": "ClinVar",
"source_id": "ASXL1",
"text": "NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs) VARIANT_IN_GENE ASXL1",
"confidence": 1
}
] | {
"variant": "NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)",
"gene": "ASXL1",
"truncation_residue": 479,
"protein_length": 1541,
"fraction_lost": 0.6890000000000001
} | 1 |
co_stru_00234 | structural_effect | coding_variant | easy | 1 | NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs) introduces a premature truncation at residue 336 of AXIN2's 843-residue protein product (AlphaFold model, mean pLDDT 60.5). Approximately how much of the protein is lost downstream of the truncation? | NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs) VARIANT_IN_GENE AXIN2 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_co... | B | [
"A. a small C-terminal portion (<25%)",
"B. more than half the protein (>50%)",
"C. a substantial portion (25-50%)"
] | [
"conservation",
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "evolutionary",
"tag": "conservation",
"anchor_node_id": "NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs)",
"source_db": "UCSC_phyloP",
"payload": {
"chrom": "chr17",
"pos": 65541507,
"track": "phyloP100way",
"window": 20,
"scores": [
5.74572,
... | [
{
"source_db": "ClinVar",
"source_id": "AXIN2",
"text": "NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs) VARIANT_IN_GENE AXIN2",
"confidence": 1
}
] | {
"variant": "NM_004655.4(AXIN2):c.1006_1007del (p.Glu336fs)",
"gene": "AXIN2",
"truncation_residue": 336,
"protein_length": 843,
"fraction_lost": 0.601
} | 1 |
co_stru_00235 | structural_effect | coding_variant | easy | 1 | NM_000314.8(PTEN):c.874_875del (p.Asn292fs) introduces a premature truncation at residue 292 of PTEN's 403-residue protein product (AlphaFold model, mean pLDDT 83.03). Approximately how much of the protein is lost downstream of the truncation? | NM_000314.8(PTEN):c.874_875del (p.Asn292fs) VARIANT_IN_GENE PTEN | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000314.8(PTEN):c.874_875del (p.Asn292fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000314.8(PTEN):c.874_875del (p.Asn292fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | C | [
"A. a small C-terminal portion (<25%)",
"B. more than half the protein (>50%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "ClinVar",
"source_id": "PTEN",
"text": "NM_000314.8(PTEN):c.874_875del (p.Asn292fs) VARIANT_IN_GENE PTEN",
"confidence": 1
}
] | {
"variant": "NM_000314.8(PTEN):c.874_875del (p.Asn292fs)",
"gene": "PTEN",
"truncation_residue": 292,
"protein_length": 403,
"fraction_lost": 0.275
} | 1 |
co_stru_00236 | structural_effect | coding_variant | easy | 1 | NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) introduces a premature truncation at residue 791 of ACE's 1306-residue protein product (AlphaFold model, mean pLDDT 90.94). Approximately how much of the protein is lost downstream of the truncation? | NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) VARIANT_IN_GENE ACE | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | B | [
"A. more than half the protein (>50%)",
"B. a substantial portion (25-50%)",
"C. a small C-terminal portion (<25%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "ACE",
"source_db": "UniProt",
"payload": {
"accession": "P12821",
"sequence": "MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLA... | [
{
"source_db": "ClinVar",
"source_id": "ACE",
"text": "NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) VARIANT_IN_GENE ACE",
"confidence": 1
}
] | {
"variant": "NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)",
"gene": "ACE",
"truncation_residue": 791,
"protein_length": 1306,
"fraction_lost": 0.394
} | 1 |
co_stru_00237 | structural_effect | coding_variant | easy | 1 | NM_032043.3(BRIP1):c.616del (p.Ser206fs) introduces a premature truncation at residue 206 of BRIP1's 1249-residue protein product (AlphaFold model, mean pLDDT 63.87). Approximately how much of the protein is lost downstream of the truncation? | NM_032043.3(BRIP1):c.616del (p.Ser206fs) VARIANT_IN_GENE BRIP1 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_032043.3(BRIP1):c.616del (p.Ser206fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_032043.3(BRIP1):c.616del (p.Ser206fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | A | [
"A. more than half the protein (>50%)",
"B. a small C-terminal portion (<25%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "BRIP1",
"source_db": "UniProt",
"payload": {
"accession": "Q9BX63",
"sequence": "MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSALAWQQSLSGKPADEGVSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNGTSSTCQDSPEKTT... | [
{
"source_db": "ClinVar",
"source_id": "BRIP1",
"text": "NM_032043.3(BRIP1):c.616del (p.Ser206fs) VARIANT_IN_GENE BRIP1",
"confidence": 1
}
] | {
"variant": "NM_032043.3(BRIP1):c.616del (p.Ser206fs)",
"gene": "BRIP1",
"truncation_residue": 206,
"protein_length": 1249,
"fraction_lost": 0.835
} | 1 |
co_stru_00238 | structural_effect | coding_variant | easy | 1 | NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter) introduces a premature truncation at residue 476 of CTNNA1's 906-residue protein product (AlphaFold model, mean pLDDT 82.94). Approximately how much of the protein is lost downstream of the truncation? | NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter) VARIANT_IN_GENE CTNNA1 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confiden... | C | [
"A. a small C-terminal portion (<25%)",
"B. more than half the protein (>50%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CTNNA1",
"source_db": "UniProt",
"payload": {
"accession": "P35221",
"sequence": "MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAASVEQATENFLEKGDKIAKESQFLKEELVAAVEDVRKQGDLMKAAAGEFADDPCSSVKRGNMVRAARALL... | [
{
"source_db": "ClinVar",
"source_id": "CTNNA1",
"text": "NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter) VARIANT_IN_GENE CTNNA1",
"confidence": 1
}
] | {
"variant": "NM_001903.5(CTNNA1):c.1426C>T (p.Gln476Ter)",
"gene": "CTNNA1",
"truncation_residue": 476,
"protein_length": 906,
"fraction_lost": 0.47500000000000003
} | 1 |
co_stru_00239 | structural_effect | coding_variant | easy | 1 | NM_001199397.3(NEK1):c.984del (p.Lys328fs) introduces a premature truncation at residue 328 of NEK1's 1258-residue protein product (AlphaFold model, mean pLDDT 56.86). Approximately how much of the protein is lost downstream of the truncation? | NM_001199397.3(NEK1):c.984del (p.Lys328fs) VARIANT_IN_GENE NEK1 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_001199397.3(NEK1):c.984del (p.Lys328fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_001199397.3(NEK1):c.984del (p.Lys328fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence... | A | [
"A. more than half the protein (>50%)",
"B. a substantial portion (25-50%)",
"C. a small C-terminal portion (<25%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "NEK1",
"source_db": "UniProt",
"payload": {
"accession": "Q96PY6",
"sequence": "MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNI... | [
{
"source_db": "ClinVar",
"source_id": "NEK1",
"text": "NM_001199397.3(NEK1):c.984del (p.Lys328fs) VARIANT_IN_GENE NEK1",
"confidence": 1
}
] | {
"variant": "NM_001199397.3(NEK1):c.984del (p.Lys328fs)",
"gene": "NEK1",
"truncation_residue": 328,
"protein_length": 1258,
"fraction_lost": 0.739
} | 1 |
co_stru_00240 | structural_effect | coding_variant | easy | 1 | NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs) introduces a premature truncation at residue 365 of MLH1's 756-residue protein product (AlphaFold model, mean pLDDT 77.31). Approximately how much of the protein is lost downstream of the truncation? | NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs) VARIANT_IN_GENE MLH1 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_conf... | C | [
"A. a substantial portion (25-50%)",
"B. a small C-terminal portion (<25%)",
"C. more than half the protein (>50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "MLH1",
"source_db": "UniProt",
"payload": {
"accession": "P40692",
"sequence": "MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGK... | [
{
"source_db": "ClinVar",
"source_id": "MLH1",
"text": "NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs) VARIANT_IN_GENE MLH1",
"confidence": 1
}
] | {
"variant": "NM_000249.4(MLH1):c.1086_1092dup (p.Ser365fs)",
"gene": "MLH1",
"truncation_residue": 365,
"protein_length": 756,
"fraction_lost": 0.517
} | 1 |
co_stru_00241 | structural_effect | coding_variant | easy | 1 | NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs) introduces a premature truncation at residue 1083 of PALB2's 1186-residue protein product (AlphaFold model, mean pLDDT 53.81). Approximately how much of the protein is lost downstream of the truncation? | NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs) VARIANT_IN_GENE PALB2 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_... | B | [
"A. a substantial portion (25-50%)",
"B. a small C-terminal portion (<25%)",
"C. more than half the protein (>50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PALB2",
"source_db": "UniProt",
"payload": {
"accession": "Q86YC2",
"sequence": "MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQQDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQRTDDTQEHFPHRVS... | [
{
"source_db": "ClinVar",
"source_id": "PALB2",
"text": "NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs) VARIANT_IN_GENE PALB2",
"confidence": 1
}
] | {
"variant": "NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)",
"gene": "PALB2",
"truncation_residue": 1083,
"protein_length": 1186,
"fraction_lost": 0.08700000000000001
} | 1 |
co_stru_00242 | structural_effect | coding_variant | easy | 1 | NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) introduces a premature truncation at residue 103 of TP53's 393-residue protein product (AlphaFold model, mean pLDDT 75.05). Approximately how much of the protein is lost downstream of the truncation? | NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) VARIANT_IN_GENE TP53 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1... | C | [
"A. a substantial portion (25-50%)",
"B. a small C-terminal portion (<25%)",
"C. more than half the protein (>50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "TP53",
"source_db": "UniProt",
"payload": {
"accession": "P04637",
"sequence": "MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMF... | [
{
"source_db": "ClinVar",
"source_id": "TP53",
"text": "NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) VARIANT_IN_GENE TP53",
"confidence": 1
}
] | {
"variant": "NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)",
"gene": "TP53",
"truncation_residue": 103,
"protein_length": 393,
"fraction_lost": 0.738
} | 1 |
co_stru_00243 | structural_effect | coding_variant | easy | 1 | NM_007194.4(CHEK2):c.1283del (p.Ser428fs) introduces a premature truncation at residue 428 of CHEK2's 543-residue protein product (AlphaFold model, mean pLDDT 76.18). Approximately how much of the protein is lost downstream of the truncation? | NM_007194.4(CHEK2):c.1283del (p.Ser428fs) VARIANT_IN_GENE CHEK2 | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_007194.4(CHEK2):c.1283del (p.Ser428fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_007194.4(CHEK2):c.1283del (p.Ser428fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence":... | B | [
"A. more than half the protein (>50%)",
"B. a small C-terminal portion (<25%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "CHEK2",
"source_db": "UniProt",
"payload": {
"accession": "O96017",
"sequence": "MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRT... | [
{
"source_db": "ClinVar",
"source_id": "CHEK2",
"text": "NM_007194.4(CHEK2):c.1283del (p.Ser428fs) VARIANT_IN_GENE CHEK2",
"confidence": 1
}
] | {
"variant": "NM_007194.4(CHEK2):c.1283del (p.Ser428fs)",
"gene": "CHEK2",
"truncation_residue": 428,
"protein_length": 543,
"fraction_lost": 0.212
} | 1 |
co_stru_00244 | structural_effect | coding_variant | easy | 1 | NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer) introduces a premature truncation at residue 181 of PTEN's 403-residue protein product (AlphaFold model, mean pLDDT 83.03). Approximately how much of the protein is lost downstream of the truncation? | NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer) VARIANT_IN_GENE PTEN | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
... | A | [
"A. more than half the protein (>50%)",
"B. a small C-terminal portion (<25%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "ClinVar",
"source_id": "PTEN",
"text": "NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer) VARIANT_IN_GENE PTEN",
"confidence": 1
}
] | {
"variant": "NM_000314.8(PTEN):c.545del (p.Leu181_Leu182insTer)",
"gene": "PTEN",
"truncation_residue": 181,
"protein_length": 403,
"fraction_lost": 0.551
} | 1 |
co_stru_00245 | structural_effect | coding_variant | easy | 1 | NM_000314.8(PTEN):c.111del (p.Pro38fs) introduces a premature truncation at residue 38 of PTEN's 403-residue protein product (AlphaFold model, mean pLDDT 83.03). Approximately how much of the protein is lost downstream of the truncation? | NM_000314.8(PTEN):c.111del (p.Pro38fs) VARIANT_IN_GENE PTEN | {
"steps": [
{
"hop": 1,
"source_node_id": "NM_000314.8(PTEN):c.111del (p.Pro38fs)",
"source_node_type": "VARIANT",
"source_node_label": "NM_000314.8(PTEN):c.111del (p.Pro38fs)",
"edge_relation": "VARIANT_IN_GENE",
"edge_evidence_type": "curated",
"edge_confidence": 1,
... | A | [
"A. more than half the protein (>50%)",
"B. a small C-terminal portion (<25%)",
"C. a substantial portion (25-50%)"
] | [
"expression",
"protein_sequence",
"protein_structure"
] | [
{
"family": "sequence",
"tag": "protein_sequence",
"anchor_node_id": "PTEN",
"source_db": "UniProt",
"payload": {
"accession": "P60484",
"sequence": "MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVM... | [
{
"source_db": "ClinVar",
"source_id": "PTEN",
"text": "NM_000314.8(PTEN):c.111del (p.Pro38fs) VARIANT_IN_GENE PTEN",
"confidence": 1
}
] | {
"variant": "NM_000314.8(PTEN):c.111del (p.Pro38fs)",
"gene": "PTEN",
"truncation_residue": 38,
"protein_length": 403,
"fraction_lost": 0.906
} | 1 |
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